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Janus激酶突变

Janus kinase mutations.

作者信息

Levine Ross L

机构信息

Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY 10065, USA.

出版信息

Semin Oncol. 2009 Apr;36(2 Suppl 1):S6-11. doi: 10.1053/j.seminoncol.2009.02.005.

Abstract

The chronic myeloproliferative neoplasms (MPNs) polycythemia vera (PV), essential thrombocytosis (ET), and primary myelofibrosis (MF) are commonly associated with mutations in the Janus kinase gene JAK2. A hallmark of PV is an abundance of red blood cells; ET, too many platelets; and MF, accumulation of neutrophils and monocytes accompanied by bone marrow fibrosis and bone marrow failure. Although knowledge of PV, ET, and MF has expanded considerably in the last decade, the pathophysiology behind these disorders is complex, and some of the underlying mechanisms are still unknown. The knowledge gap for these diseases has been compounded by the observation that a subset of patients with PV, ET, and MF do not present with mutations that activate JAK2. Recent studies suggest JAK inhibitors may offer significant benefit to patients with these MPNs and may have a role in the treatment of other malignancies that are also driven, at least in part, by activation of JAK signaling. However, additional genetic and functional studies are needed to identify the patients that will benefit most from JAK kinase inhibitors.

摘要

慢性骨髓增殖性肿瘤(MPN)包括真性红细胞增多症(PV)、原发性血小板增多症(ET)和原发性骨髓纤维化(MF),通常与Janus激酶基因JAK2的突变有关。PV的一个特征是红细胞数量过多;ET是血小板过多;MF则是中性粒细胞和单核细胞积聚,并伴有骨髓纤维化和骨髓衰竭。尽管在过去十年中,人们对PV、ET和MF的了解有了很大扩展,但这些疾病背后的病理生理学很复杂,一些潜在机制仍然未知。PV、ET和MF患者的一个子集未出现激活JAK2的突变,这一观察结果使这些疾病的知识空白更加复杂。最近的研究表明,JAK抑制剂可能会给这些MPN患者带来显著益处,并且可能在治疗其他至少部分由JAK信号激活驱动的恶性肿瘤中发挥作用。然而,需要进行更多的基因和功能研究,以确定最能从JAK激酶抑制剂中获益的患者。

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